Department of Neurology, Columbia University Medical Center, 3-313 Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, New York, New York 10032, USA.
Muscle Nerve. 2010 May;41(5):707-10. doi: 10.1002/mus.21612.
A 25-year-old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that was recently reported in a patient with isolated myopathy. This case reinforces the concept that PGK deficiency is a clinically heterogeneous disorder and raises the question of a relationship between PGK deficiency and idiopathic juvenile Parkinson disease.
一位 25 岁的劳力性肌红蛋白尿患者没有溶血性贫血的证据，但他有严重的帕金森病，对左旋多巴有反应。肌肉中磷酸甘油酸激酶 (PGK) 活性明显降低，PGK1 基因突变的分子分析发现了最近报道的患有孤立性肌病的患者中的 p.T378P 突变。该病例进一步证实了 PGK 缺乏症是一种临床表现多样的疾病，并提出了 PGK 缺乏症与特发性青少年帕金森病之间的关系问题。
